Search Results - "Zimmerman, Holly H"

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization by Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H

“…The presynaptic, high-affinity choline transporter is a critical determinant of signalling by the neurotransmitter acetylcholine at both central and peripheral…”
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death by Eldomery, Mohammad K, Akdemir, Zeynep C, Vögtle, F-Nora, Charng, Wu-Lin, Mulica, Patrycja, Rosenfeld, Jill A, Gambin, Tomasz, Gu, Shen, Burrage, Lindsay C, Al Shamsi, Aisha, Penney, Samantha, Jhangiani, Shalini N, Zimmerman, Holly H, Muzny, Donna M, Wang, Xia, Tang, Jia, Medikonda, Ravi, Ramachandran, Prasanna V, Wong, Lee-Jun, Boerwinkle, Eric, Gibbs, Richard A, Eng, Christine M, Lalani, Seema R, Hertecant, Jozef, Rodenburg, Richard J, Abdul-Rahman, Omar A, Yang, Yaping, Xia, Fan, Wang, Meng C, Lupski, James R, Meisinger, Chris, Sutton, V Reid

“…Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus…”
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5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C by Carr, Christopher W., Zimmerman, Holly H., Martin, Christa Lese, Vikkula, Miikka, Byrd, Adam C., Abdul-Rahman, Omar A.

“…Haploinsufficiency of RASA1, located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation–arteriovenous…”
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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder by Abrams, Alexander J, Hufnagel, Robert B, Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A, Campeanu, Ion J, Griffin, Laurie B, Groenewald, Saskia, Strickland, Alleene V, Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M, Sund, Kristen L, Wang, Xinjian, Krueger, Laura A, Peng, Yanyan, Prada, Carlos E, Prows, Cynthia A, Schorry, Elizabeth K, Antonellis, Anthony, Zimmerman, Holly H, Abdul-Rahman, Omar A, Yang, Yaping, Downes, Susan M, Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Németh, Andrea H, Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E

“…Stephan Zuchner, Taosheng Huang and colleagues show that recessive mutations in SLC25A46 cause optic atrophy with additional neurological symptoms. They…”
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Integrating nutrition and genetic counseling: A case study approach to interprofessional learning by Cratsenberg, Drew M., Jackson, Mariah K., Hanson, Corrine K., Zimmerman, Holly H.

“…Interprofessional collaboration is an increasingly important skillset for practicing healthcare professionals including genetic counselors and registered…”
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Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita by Frints, Suzanna G.M., Hennig, Friederike, Colombo, Roberto, Jacquemont, Sebastien, Terhal, Paulien, Zimmerman, Holly H., Hunt, David, Mendelsohn, Bryce A., Kordaß, Ulrike, Webster, Richard, Sinnema, Margje, Abdul‐Rahman, Omar, Suckow, Vanessa, Fernández‐Jaén, Alberto, Roozendaal, Kees, Stevens, Servi J.C., Macville, Merryn V.E., Al‐Nasiry, Salwan, Gassen, Koen, Utzig, Norbert, Koudijs, Suzanne M., McGregor, Lesley, Maas, Saskia M., Baralle, Diana, Dixit, Abhijit, Wieacker, Peter, Lee, Marcus, Lee, Arthur S., Engle, Elizabeth C., Houge, Gunnar, Gradek, Gyri A., Douglas, Andrew G.L., Longman, Cheryl, Joss, Shelagh, Velasco, Danita, Hennekam, Raoul C., Hirata, Hiromi, Kalscheuer, Vera M.

“…Pathogenic variants in the X‐linked gene ZC4H2, which encodes a zinc‐finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex…”
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Telehealth genetic services during the COVID‐19 Pandemic: Implementation and patient experiences across multiple specialties in Nebraska by Rezich, Brianna M.Z., Malone, Jaime A., Reiser, Gwen, Zimmerman, Holly H., Blase, Terri L., Fishler, Kristen P.

“…The COVID‐19 pandemic has altered the delivery of genetics services. In response to the pandemic, our genetics department offered telehealth visits to all…”
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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency by CARR, Christopher W, MORENO-DE-LUCA, Daniel, PARKER, Colette, ZIMMERMAN, Holly H, LEDBETTER, Nikki, LESE MARTIN, Christa, DOBYNS, William B, ABDUL-RAHMAN, Omar A

“…Human FOXP2 deficiency has been identified as a cause of hereditary developmental verbal dyspraxia. Another member of the same gene family, FOXP1, has…”
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Optic Nerve Enlargement in Krabbe Disease: A Pathophysiologic and Clinical Perspective by Hussain, Syed A., Zimmerman, Holly H., Abdul-Rahman, Omar A., Hussaini, Syed M., Parker, Colette C., Khan, Majid

“…Krabbe disease is an infantile-onset progressive leukodystrophy. The classic presentation includes excessive irritability, muscle hypertonicity, developmental…”
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Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge by Veerapandiyan, Aravindhan, Abdul-Rahman, Omar A., Adam, Margaret P., Lyons, Michael J., Manning, Melanie, Coleman, Karlene, Kobrynski, Lisa, Taneja, Deeksha, Schoch, Kelly, Zimmerman, Holly H., Shashi, Vandana

“…Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with numerous and variable clinical manifestations including conotruncal heart abnormalities,…”
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Whole-genome copy number variation analysis in anophthalmia and microphthalmia by Schilter, KF, Reis, LM, Schneider, A, Bardakjian, TM, Abdul-Rahman, O, Kozel, BA, Zimmerman, HH, Broeckel, U, Semina, EV

“…Anophthalmia/microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases…”
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Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder by Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.

“…Dominant optic atrophy (DOA) 1 , 2 and axonal peripheral neuropathy (Charcot-Marie-Tooth Type 2 or CMT2) 3 are hereditary neurodegenerative disorders most…”
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An Ugo1-like protein is associated with optic atrophy ‘plus’ disorders by Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Caporali, Leonardo, La Morgia, Chiara, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdulrahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Julia, Dallman, Zuchner, Stephan

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Abstracts of the 52nd Workshop for Pediatric Research: Frankfurt, Germany. 27-28 October 2016 by Weil, Patrick P., Ziegenhals, Thomas, Juranek, Stefan, Gödde, Daniel, Vogel, Silvia, Schuster, Frauke, Dörner, Johannes, Pembaur, Daniel, Störkel, Stefan, Wirth, Stefan, Boy, Nikolas, Heringer, Jana, Haege, Gisela, Glahn, Esther M., Burgard, Peter, Kölker, Stefan, Shrestha, Amit, Ahmadvand, Negah, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F., Seeliger, Stephan, Hippe, Andreas, Hofmann, Sigrun R., Rauh, Manfred, Metzler, Markus, Bandoła, Joanna, Richter, Cornelia, Ryser, Martin, Ashton, Michelle P., von Bonin, Malte, Hedrich, Christian M., Berner, Reinhard, Brenner, Sebastian, Stachel, Daniel, Kiritsi, Dimitra, Söder, Stephan, Metzler, Markus, Bohne, F., Eggermann, T., Zechner, U., Prawitt, D., Pech, Martin, Weckmann, Markus, Franke, Andre, Happle, Christine, Hansen, Gesine, Fuchs, Oliver, von Mutius, Erika, Oliver, Brian G., Paret, Claudia, Keller, Bettina, Lehmann, Nadine, Wingerter, Arthur, Aslihan, Gerhold-Ay, Wagner, Wolfgang, Seidmann, Larissa, Faber, Jörg, Schreiner, Felix, Ackermann, Merle, Racz, Ildiko, Lutz, Beat, Dötsch, Jörg, Zimmer, Andreas, Fischer, Hendrik S., Bührer, Christoph, Czernik, Christoph, Hofmann, Sigrun R., Hagenbuchner, Judith, Obexer, Petra, Ausserlechner, Michael J., Loges, Niki T., Frommer, Adrien Tobias, Öner-Sieben, Soner, Gimpfl, Martina, Beckers, Johannes, Roscher, Adelbert, Wolf, Eckhard, Ensenauer, Regina, Hasselblatt, Martin, Siebert, Reiner, Kordes, Uwe, Kool, Marcel, Hardy, Holly, Refai, Osama, Zimmerman, Holly H., Baple, Emma L., Standl, M., Thiering, E., Koletzko, B., Picard, Daniel, Frühwald, Michael C., Reifenberger, Guido, Hasselblatt, Martin, Wabitsch, M., Westhoff, Mike-Andrew, Langhans, Julia, Schneele, Lukas, Trenkler, Nancy, Debatin, Klaus-Michael

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Abstracts of the 52nd Workshop for Pediatric Research by Weil, Patrick P, Schreiner, Philipp, Juranek, Stefan, Gödde, Daniel, Schuster, Frauke, Postberg, Jan, Heringer, Jana, Haege, Gisela, Hoffmann, Georg F, Faady Yahya, Moiseenko, Alena, Ahmadvand, Negah, Zimmer, Klaus-Peter, Prokisch, Holger, Seeliger, Stephan, Müller, Matthias, Hippe, Andreas, Steinkraus, Henrik, Wauer, Roland, Hofmann, Sigrun R, Hedrich, Christian M, Haeckel, Rainer, Rascher, Wolfgang, Richter, Cornelia, Ryser, Martin, Arshad, Jamal, Ashton, Michelle P, Malte von Bonin, Kuhn, Matthias, Bonifacio, Ezio, Berner, Reinhard, Brenner, Sebastian, Hammersen, Johanna, Söder, Stephan, Tardieu, Mathilde, Bohne, F, Cencic, R, Zepp, F, Enklaar, T, Pech, Martin, Weckmann, Markus, Heinsen, Femke-Anouska, Franke, Andre, Dittrich, Anna-Maria, Hansen, Gesine, Erika von Mutius, Kopp, Matthias V, Russo, Alexandra, Theruvath, Johanna, Keller, Bettina, Lehmann, Nadine, Wingerter, Arthur, Neu, Marie A, Gerhold-Ay Aslihan, Sommer, Clemens, Pietsch, Torsten, Faber, Jörg, Ackermann, Merle, Rother, Eva, Bilkei-Gorzo, Andras, Racz, Ildiko, Zimmer, Andreas, Woelfle, Joachim, Fischer, Hendrik S, Czernik, Christoph, Schmalisch, Gerd, Hagenbuchner, Judith, Kiechl-Kohlendorfer, Ursula, Loges, Niki T, Wallmeier, Julia, Omran, Heymut, Öner-Sieben, Soner, Gimpfl, Martina, Rozman, Jan, Irmler, Martin, Martin Hrabe De Angelis, Wolf, Eckhard, Nemes, Karolina, Frühwald, Michael, Hasselblatt, Martin, Wang, Haicui, Hardy, Holly, Barwick, Katy E S, Weis, Joachim, Baple, Emma L, Crosby, Andrew H, Cirak, Sebahattin, Standl, M, Heinrich, J, Thiering, E, Koletzko, B, Blümel, Lena, Picard, Daniel, Frühwald, Michael C, Liebau, Max C, Arndt Borkhardt, Tews, D, Wabitsch, M, Mike-Andrew Westhoff, Langhans, Julia

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